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Description for Protein CACNA1A

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
7 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • AT_hook: DNA binding domain with preference for A/T rich regions
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04344
    KEGG - Pathway(s):
    hsa04010; hsa04020; hsa04730; hsa04742; hsa04930
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    EA2; Episodic ataxia type 2; CAV2.1; FHM; MHP; APCA; HPCA; MHP1; SCA6; CACNL1A4; CACH4; CACN3; Brain calcium channel 1; Voltage dependent P/Q type calcium channel alpha 1A subunit; Brain calcium channel I; Calcium channel, alpha 1A subunit isoform 1; Calcium channel, alpha 1A subunit isoform 2
    Approved Symbol:
    CACNA1A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Bepridil(db);
  • Loperamide(db);
  • Pregabalin(db);
  • Verapamil(db)

    Associated Genetic Diseases:

  • Episodic ataxia, type 2(Pd);
  • Episodic ataxia, type 2, and epilepsy(Pd);
  • Migraine, familial hemiplegic 1, with progressive cerebellar ataxia(Pd);
  • Migraine, familial hemiplegic, 1(Pd);
  • Spinocerebellar ataxia 6(Pd)
    		• Predicted Transmembrane Domains:
    03004_4(17)
    03004_3(17)
    03004_2(17)
    03004_1(17)
    Additional Identifiers:

    HPRD: 03004 Entrez Gene ID: 773 OMIM ID: 601011 Swissprot Accession: O00555; Q9NS88;